MPS II (Hunter Syndrome)
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Overview
MPS II is a mucopolysaccharide disease known as Hunter syndrome. It takes its name from Charles Hunter, the professor of medicine in Manitoba, Canada, who first described two brothers with the disease in 1917. MPS II has a wide range of symptoms that vary in severity and can be managed and treated with enzyme replacement therapies. There is no cure for MPS II.
Hunter Syndrome is a rare condition that affects approximately 1 in 100,000 to 1 in 170,000 individuals, primarily males.
Understanding the Cause of MPS and ML
Mucopolysaccharides are chains of sugar molecules used to build connective tissues in the body.
“muco” refers to the thick jelly-like consistency of the molecules
“poly” means many
“saccharide” is a general term for a sugar molecule
The body constantly replaces used materials and breaks them down for disposal. MPS II patients are missing the enzyme iduronate sulfatase, which is essential to breaking down the mucopolysaccharides dermatan and heparan sulphate. These materials remain stored in the body’s cells, causing progressive damage. Babies may show little sign of the disease, but as cells sustain damage, symptoms start to appear.
Understanding the Inheritance of the Disease
MPS II primarily affects boys, while girls can be carriers of the gene that causes the condition. Although rare, MPS II can occur in girls. When a mother is a carrier, there is a 50% chance that any son she has will inherit the disease. Female relatives on the mother’s side, such as sisters or maternal aunts of an affected individual, may also be carriers and have a 50% chance of passing the condition to their sons.
Common Questions
Can you explain the difference in neuronopathic and non-neuronopathic MPS II?
MPS II, or Hunter syndrome, can affect individuals in different ways. The main difference between the two forms is whether the brain is involved.
Neuronopathic MPS II includes progressive changes in thinking, learning, and behavior. Over time, it may lead to significant cognitive decline.
Non-neuronopathic MPS II does not involve the brain. Individuals typically have normal intelligence but still face physical symptoms that may require ongoing care.
What are the differences in the two types of ERT available?
Two enzyme replacement therapies (ERTs) are available for Hunter Syndrome. Both provide the missing enzyme to help reduce harmful buildup and support improved physical functioning.
Elaprase has been available since 2006, and Hunterase is a more recently approved therapy. You or your loved one’s care team can determine which therapy is appropriate based on individual medical needs.
Are there are other ways we should manage symptoms?
Yes. While ERT helps address many physical symptoms by replacing the missing enzyme, managing MPS II often requires a comprehensive approach. This can include:
- Supportive therapies like physical, occupational, and speech therapy to maintain mobility, independence, and communication skills.
- Medications to manage symptoms such as pain, infections, or respiratory issues.
- Surgical interventions for problems like hernias, carpal tunnel syndrome, or heart valve issues.
- Respiratory support, including breathing treatments or ventilation assistance if needed.
- Regular monitoring by a specialized medical team to catch and treat complications early.
Each person’s needs are unique, so a personalized care plan is key.
Clinical Trials
Clinical trials are research studies that determine whether treatments or devices are safe for humans. These studies also look for effective medical approaches for specific conditions and help provide reliable data for patients, researchers and doctors.
Clinical trials are conducted on small groups to determine whether a drug or procedure causes negative reactions or unsatisfactory side effects.
ERT
Enzyme replacement therapy (ERT) uses an intravenous solution (IV) to replace a deficient or missing enzyme in the body.
ERT does not cure the disease but slows its progress by increasing the amount of missing enzyme in the body.
Elaprase™ (idursulfase) is a long-term enzyme replacement therapy for patients with a confirmed diagnosis of MPS II and has been approved for use in the U.S., Canada and many countries in Europe. Elaprase was developed and is produced by Shire Pharmaceuticals and is given as weekly infusions.
Visit www.takeda.com for more information or contact OnePath at 866-888-0660. OnePath provides assistance with insurance, product access, treatment centers and education about Elaprase and MPS II.
Emerging Treatments
Pharmaceutical companies, medical researchers and clinicians are constantly working on emerging treatments for MPS. The following companies are working on therapies for MPS II.
Need Support? We’re Here for You
Living with an MPS diagnosis can feel overwhelming, but you’re not alone. Our Family Support Programs offer guidance, resources, and a caring community to help you every step of the way.
